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Introduction to genetic disorders

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This tutorial aims to provide you with information on common chromosomal conditions and single gene disorders, including the genetic basis for the conditions, the phenotype of the disease and the options available for prenatal diagnosis.

It also includes some basic genetics to aid your understanding. It aims to cover the majority of module 8 in the RCOG core curriculum as well as providing you with the skills to counsel women that present to you as part of routine antenatal care.

Learning objectives

When you have completed this tutorial you will be able to:

  • understand gene structure and function
  • describe modes of inheritance
  • outline the genetic basis and phenotype of common aneuploides
  • explain genetic basis and clinical implications of common single gene disorders
  • be aware of the options for invasive testing in prenatal diagnosis
  • understand the ethical and moral implications of genetic screening and diagnosis

Tutorial reviewed and updated by Dr Brewster: 18/11/09

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